Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies.

AJNR. American Journal of Neuroradiology
D N MannersR Lodi

Abstract

Brain white matter is frequently affected in mitochondrial diseases; optic atrophy gene 1-autosomal dominant optic atrophy and Leber hereditary optic neuropathy are the most frequent mitochondrial monosymptomatic optic neuropathies. In this observational study, brain white matter microstructure was characterized by DTI in patients with optic atrophy gene 1-autosomal dominant optic atrophy and Leber hereditary optic neuropathy, in relation to clinical and genetic features. Nineteen patients with optic atrophy gene 1-autosomal dominant optic atrophy and 17 with Leber hereditary optic neuropathy older than 18 years of age, all genetically diagnosed, and 19 healthy volunteers underwent DTI by using a 1.5T MR imaging scanner and neurologic and ophthalmologic assessments. Brain white matter DTI metrics were calculated for all participants, and, in patients, their correlations with genetics and clinical findings were calculated. Compared with controls, patients with optic atrophy gene 1-autosomal dominant optic atrophy had an increased mean diffusivity in 29.2% of voxels analyzed within major white matter tracts distributed throughout the brain, while fractional anisotropy was reduced in 30.3% of voxels. For patients with Leber heredi...Continue Reading

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Citations

Sep 23, 2016·Annals of Clinical and Translational Neurology·Patrick Yu-Wai-ManPatrick F Chinnery
Oct 4, 2016·Acta Neuropathologica·Patrick Yu-Wai-ManValerio Carelli
Oct 5, 2017·Human Molecular Genetics·Valerio CarelliAlfredo A Sadun
Aug 23, 2020·International Journal of Molecular Sciences·Maryam GulAmmar Chaudhry
Jul 22, 2018·Essays in Biochemistry·Mario MascalchiRenzo Guerrini
Mar 27, 2019·Journal of Neurology·Miaomiao LongChunshui Yu
Nov 5, 2019·Neuroradiology·Maria Camilla Rossi-EspagnetDaniela Longo
Nov 20, 2016·Acta Ophthalmologica·Petra LiskovaMarcela Votruba
Mar 2, 2021·Biochemical Pharmacology·Stefania EvangelistiRaffaele Lodi
Jun 25, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Ling WangWen Qin

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